Results of screening for phenylalanine and other amino acid disturbances among pregnant women
| Autor: | A. Doležal, Homolka J, Z. Třesohlavá, Josef Hyánek, J. Trnka, Kapras J, Losan F, Sona Nevsimalova, M. Malá, Cervenka J, Srácek J, Hoza J, Seemanová E, Viletová H, V. Vácha |
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| Rok vydání: | 1978 |
| Předmět: |
Adult
Male medicine.medical_specialty Phenylalanine Physiology Biology Pregnancy Internal medicine Genetics medicine Humans Amino Acids Metabolic disease Amino Acid Metabolism Inborn Errors Genetics (clinical) chemistry.chemical_classification Incidence (epidemiology) Metabolism medicine.disease Pedigree Amino acid Pregnancy Complications Paper chromatography Endocrinology chemistry Tyrosine Female Phenylalanine metabolism |
| Zdroj: | Journal of Inherited Metabolic Disease. 2:59-63 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01801720 |
| Popis: | Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described. |
| Databáze: | OpenAIRE |
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